Canonical Allele Identifier: PA2825695479
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 500090

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001123927.1:p.Arg1750Cys
CA1707345
NM_001130455.2:c.5248C>T